Incidental Mutation 'IGL03117:Eps8l1'
| ID |
419495 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Eps8l1
|
| Ensembl Gene |
ENSMUSG00000006154 |
| Gene Name |
EPS8-like 1 |
| Synonyms |
DRC3, EPS8R1, 4632407K17Rik, 2310051G19Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL03117
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
4463673-4483486 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 4473886 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 231
(L231P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133206
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000086372]
[ENSMUST00000163137]
[ENSMUST00000163804]
[ENSMUST00000163893]
[ENSMUST00000167298]
[ENSMUST00000171445]
[ENSMUST00000169820]
[ENSMUST00000170635]
[ENSMUST00000167810]
|
| AlphaFold |
Q8R5F8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000086372
AA Change: L170P
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000083559
Gene: ENSMUSG00000006154
AA Change: L170P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PTB
|
35 |
165 |
2.1e-46 |
PFAM |
|
low complexity region
|
282 |
304 |
N/A |
INTRINSIC |
|
SH3
|
480 |
535 |
2.62e-11 |
SMART |
|
low complexity region
|
554 |
564 |
N/A |
INTRINSIC |
|
PDB:1WWU|A
|
632 |
698 |
1e-19 |
PDB |
|
low complexity region
|
701 |
715 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146199
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000163137
|
| SMART Domains |
Protein: ENSMUSP00000131345
Gene: ENSMUSG00000006154
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PTB
|
35 |
100 |
1.9e-22 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000163804
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000163893
AA Change: L170P
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000125840
Gene: ENSMUSG00000006154
AA Change: L170P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PTB
|
35 |
165 |
2.1e-46 |
PFAM |
|
low complexity region
|
282 |
304 |
N/A |
INTRINSIC |
|
SH3
|
480 |
535 |
2.62e-11 |
SMART |
|
low complexity region
|
554 |
564 |
N/A |
INTRINSIC |
|
PDB:1WWU|A
|
632 |
698 |
1e-19 |
PDB |
|
low complexity region
|
701 |
715 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000167068
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000167298
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000171445
AA Change: L231P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000133206
Gene: ENSMUSG00000006154
AA Change: L231P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PTB
|
96 |
226 |
5.8e-46 |
PFAM |
|
low complexity region
|
343 |
365 |
N/A |
INTRINSIC |
|
SH3
|
541 |
596 |
2.62e-11 |
SMART |
|
low complexity region
|
615 |
625 |
N/A |
INTRINSIC |
|
PDB:1WWU|A
|
693 |
759 |
1e-19 |
PDB |
|
low complexity region
|
762 |
776 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000167599
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000171665
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000170423
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000169820
|
| SMART Domains |
Protein: ENSMUSP00000131773
Gene: ENSMUSG00000006154
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PTB
|
35 |
93 |
1.1e-21 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000170635
|
| SMART Domains |
Protein: ENSMUSP00000127999
Gene: ENSMUSG00000006154
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:2CY5|A
|
26 |
52 |
3e-13 |
PDB |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000167810
|
| SMART Domains |
Protein: ENSMUSP00000126720
Gene: ENSMUSG00000006154
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PTB
|
35 |
152 |
5e-44 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that is related to epidermal growth factor receptor pathway substrate 8 (EPS8), a substrate for the epidermal growth factor receptor. The function of this protein is unknown. At least two alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Cacna2d3 |
A |
G |
14: 29,189,909 (GRCm39) |
L109P |
probably damaging |
Het |
| Caprin2 |
A |
T |
6: 148,763,964 (GRCm39) |
S568T |
possibly damaging |
Het |
| Catip |
A |
G |
1: 74,403,744 (GRCm39) |
T154A |
probably null |
Het |
| Ccdc187 |
A |
G |
2: 26,177,980 (GRCm39) |
S270P |
possibly damaging |
Het |
| Ccdc88a |
A |
G |
11: 29,324,559 (GRCm39) |
Y39C |
probably damaging |
Het |
| Chrdl2 |
A |
T |
7: 99,676,787 (GRCm39) |
H203L |
possibly damaging |
Het |
| Chrnb2 |
A |
G |
3: 89,670,552 (GRCm39) |
V62A |
probably damaging |
Het |
| Cklf |
T |
A |
8: 104,984,055 (GRCm39) |
S73T |
possibly damaging |
Het |
| Clk1 |
A |
G |
1: 58,456,166 (GRCm39) |
|
probably null |
Het |
| Ctdp1 |
T |
C |
18: 80,492,716 (GRCm39) |
D593G |
probably damaging |
Het |
| Ctsc |
A |
T |
7: 87,958,988 (GRCm39) |
I423F |
probably damaging |
Het |
| D130043K22Rik |
T |
A |
13: 25,073,825 (GRCm39) |
V968E |
probably damaging |
Het |
| Dennd4c |
A |
G |
4: 86,696,140 (GRCm39) |
S166G |
possibly damaging |
Het |
| Dnah2 |
G |
T |
11: 69,327,117 (GRCm39) |
|
probably benign |
Het |
| Dnajb11 |
G |
T |
16: 22,687,888 (GRCm39) |
R206L |
probably benign |
Het |
| Dsel |
A |
T |
1: 111,786,908 (GRCm39) |
|
probably benign |
Het |
| Ehd2 |
T |
C |
7: 15,684,396 (GRCm39) |
S468G |
possibly damaging |
Het |
| Ehmt2 |
T |
A |
17: 35,125,787 (GRCm39) |
V640E |
possibly damaging |
Het |
| Elmo2 |
T |
A |
2: 165,140,573 (GRCm39) |
E299D |
probably benign |
Het |
| Esd |
A |
G |
14: 74,978,686 (GRCm39) |
T83A |
probably damaging |
Het |
| Flt3 |
A |
G |
5: 147,293,020 (GRCm39) |
F529L |
probably benign |
Het |
| Hnrnpu |
G |
A |
1: 178,158,339 (GRCm39) |
|
probably benign |
Het |
| Hpx |
G |
T |
7: 105,249,278 (GRCm39) |
A7E |
possibly damaging |
Het |
| Ighv6-5 |
C |
T |
12: 114,380,320 (GRCm39) |
V85M |
possibly damaging |
Het |
| Itpr3 |
G |
A |
17: 27,338,240 (GRCm39) |
V2503I |
probably damaging |
Het |
| Itprid1 |
A |
G |
6: 55,875,114 (GRCm39) |
T355A |
probably benign |
Het |
| Matr3 |
G |
T |
18: 35,705,710 (GRCm39) |
G212C |
probably damaging |
Het |
| Mrpl35 |
A |
T |
6: 71,793,263 (GRCm39) |
Y129* |
probably null |
Het |
| Myh2 |
T |
C |
11: 67,071,710 (GRCm39) |
I509T |
possibly damaging |
Het |
| Nat8l |
G |
T |
5: 34,158,288 (GRCm39) |
A233S |
probably damaging |
Het |
| Nipbl |
A |
C |
15: 8,361,936 (GRCm39) |
L1447W |
probably damaging |
Het |
| Paf1 |
T |
A |
7: 28,094,481 (GRCm39) |
C31S |
possibly damaging |
Het |
| Parp4 |
A |
C |
14: 56,840,313 (GRCm39) |
T573P |
probably benign |
Het |
| Phf12 |
A |
T |
11: 77,913,846 (GRCm39) |
|
probably benign |
Het |
| Pi4k2b |
A |
G |
5: 52,905,765 (GRCm39) |
E102G |
probably benign |
Het |
| Pou2f1 |
A |
G |
1: 165,762,382 (GRCm39) |
C7R |
probably benign |
Het |
| Prpsap2 |
T |
C |
11: 61,631,815 (GRCm39) |
R181G |
probably benign |
Het |
| Psd |
A |
G |
19: 46,311,561 (GRCm39) |
|
probably benign |
Het |
| Ptgds |
T |
C |
2: 25,359,622 (GRCm39) |
T22A |
probably benign |
Het |
| Rab21 |
A |
T |
10: 115,151,097 (GRCm39) |
|
probably null |
Het |
| Relb |
T |
C |
7: 19,346,582 (GRCm39) |
D330G |
probably damaging |
Het |
| Rhoc |
A |
T |
3: 104,700,236 (GRCm39) |
T100S |
probably benign |
Het |
| Ryr1 |
G |
T |
7: 28,802,389 (GRCm39) |
H744N |
probably damaging |
Het |
| Sardh |
C |
T |
2: 27,129,458 (GRCm39) |
G280D |
probably damaging |
Het |
| Scyl2 |
A |
C |
10: 89,493,729 (GRCm39) |
N346K |
possibly damaging |
Het |
| Sec16b |
T |
C |
1: 157,362,970 (GRCm39) |
F267S |
probably damaging |
Het |
| Slc44a5 |
T |
A |
3: 153,956,714 (GRCm39) |
M322K |
probably benign |
Het |
| St8sia4 |
T |
A |
1: 95,519,508 (GRCm39) |
N327Y |
probably benign |
Het |
| Tbl1xr1 |
T |
A |
3: 22,257,323 (GRCm39) |
Y395* |
probably null |
Het |
| Unc13c |
A |
T |
9: 73,441,307 (GRCm39) |
S1897R |
probably benign |
Het |
| Vangl2 |
A |
G |
1: 171,840,415 (GRCm39) |
S58P |
probably damaging |
Het |
| Vmn1r17 |
A |
G |
6: 57,337,501 (GRCm39) |
I288T |
probably benign |
Het |
| Vmn1r236 |
A |
G |
17: 21,507,508 (GRCm39) |
I209V |
probably benign |
Het |
| Zfp809 |
A |
G |
9: 22,149,950 (GRCm39) |
Y149C |
probably damaging |
Het |
|
| Other mutations in Eps8l1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01292:Eps8l1
|
APN |
7 |
4,481,919 (GRCm39) |
utr 3 prime |
probably benign |
|
|
IGL01455:Eps8l1
|
APN |
7 |
4,481,922 (GRCm39) |
utr 3 prime |
probably benign |
|
|
IGL01872:Eps8l1
|
APN |
7 |
4,475,295 (GRCm39) |
splice site |
probably benign |
|
|
IGL02343:Eps8l1
|
APN |
7 |
4,475,123 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL02585:Eps8l1
|
APN |
7 |
4,472,212 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02596:Eps8l1
|
APN |
7 |
4,473,871 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02673:Eps8l1
|
APN |
7 |
4,481,731 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Anamnestic
|
UTSW |
7 |
4,473,873 (GRCm39) |
missense |
probably damaging |
0.98 |
|
souvenir
|
UTSW |
7 |
4,480,895 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
PIT4142001:Eps8l1
|
UTSW |
7 |
4,474,414 (GRCm39) |
missense |
probably benign |
0.00 |
|
PIT4151001:Eps8l1
|
UTSW |
7 |
4,474,414 (GRCm39) |
missense |
probably benign |
0.00 |
|
PIT4480001:Eps8l1
|
UTSW |
7 |
4,474,414 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0015:Eps8l1
|
UTSW |
7 |
4,480,556 (GRCm39) |
splice site |
probably benign |
|
|
R0599:Eps8l1
|
UTSW |
7 |
4,480,956 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R0686:Eps8l1
|
UTSW |
7 |
4,480,449 (GRCm39) |
missense |
probably benign |
0.36 |
|
R0827:Eps8l1
|
UTSW |
7 |
4,480,388 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R1015:Eps8l1
|
UTSW |
7 |
4,472,932 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1447:Eps8l1
|
UTSW |
7 |
4,477,055 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1490:Eps8l1
|
UTSW |
7 |
4,473,888 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1527:Eps8l1
|
UTSW |
7 |
4,474,393 (GRCm39) |
missense |
probably benign |
|
|
R1553:Eps8l1
|
UTSW |
7 |
4,480,448 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1763:Eps8l1
|
UTSW |
7 |
4,474,822 (GRCm39) |
missense |
probably benign |
0.43 |
|
R1863:Eps8l1
|
UTSW |
7 |
4,468,359 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R2357:Eps8l1
|
UTSW |
7 |
4,473,354 (GRCm39) |
missense |
probably benign |
0.06 |
|
R3153:Eps8l1
|
UTSW |
7 |
4,474,798 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4082:Eps8l1
|
UTSW |
7 |
4,473,797 (GRCm39) |
splice site |
probably null |
|
|
R4539:Eps8l1
|
UTSW |
7 |
4,481,623 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4684:Eps8l1
|
UTSW |
7 |
4,476,944 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4930:Eps8l1
|
UTSW |
7 |
4,463,915 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R4931:Eps8l1
|
UTSW |
7 |
4,474,240 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5245:Eps8l1
|
UTSW |
7 |
4,473,873 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5247:Eps8l1
|
UTSW |
7 |
4,473,401 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5305:Eps8l1
|
UTSW |
7 |
4,480,895 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R5420:Eps8l1
|
UTSW |
7 |
4,473,160 (GRCm39) |
splice site |
probably null |
|
|
R5620:Eps8l1
|
UTSW |
7 |
4,463,945 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R5705:Eps8l1
|
UTSW |
7 |
4,473,034 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6063:Eps8l1
|
UTSW |
7 |
4,474,296 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R6909:Eps8l1
|
UTSW |
7 |
4,472,899 (GRCm39) |
nonsense |
probably null |
|
|
R7096:Eps8l1
|
UTSW |
7 |
4,477,190 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7136:Eps8l1
|
UTSW |
7 |
4,480,403 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7144:Eps8l1
|
UTSW |
7 |
4,475,184 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7381:Eps8l1
|
UTSW |
7 |
4,473,437 (GRCm39) |
splice site |
probably null |
|
|
R7539:Eps8l1
|
UTSW |
7 |
4,473,036 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7784:Eps8l1
|
UTSW |
7 |
4,475,121 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7833:Eps8l1
|
UTSW |
7 |
4,471,866 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R8190:Eps8l1
|
UTSW |
7 |
4,474,297 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8311:Eps8l1
|
UTSW |
7 |
4,474,817 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8549:Eps8l1
|
UTSW |
7 |
4,473,853 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8960:Eps8l1
|
UTSW |
7 |
4,481,214 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8974:Eps8l1
|
UTSW |
7 |
4,474,817 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9003:Eps8l1
|
UTSW |
7 |
4,464,016 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9023:Eps8l1
|
UTSW |
7 |
4,477,042 (GRCm39) |
nonsense |
probably null |
|
|
R9131:Eps8l1
|
UTSW |
7 |
4,480,573 (GRCm39) |
missense |
|
|
|
R9517:Eps8l1
|
UTSW |
7 |
4,480,636 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9653:Eps8l1
|
UTSW |
7 |
4,481,886 (GRCm39) |
missense |
unknown |
|
|
X0060:Eps8l1
|
UTSW |
7 |
4,473,850 (GRCm39) |
missense |
probably damaging |
0.96 |
|
| Posted On |
2016-08-02 |
Incidental Mutation